ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825323287
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367407
ClinVar RCV Id:
RCV000343290
RCV001416506
RCV003957876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018047.1:p.Glu2321Lys
CA5093209
NM_001018037.2:c.6961G>A